Clefting
Gene: NEDD4L

NEDD4L (neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase)
EnsemblGeneIds (GRCh38): ENSG00000049759
EnsemblGeneIds (GRCh37): ENSG00000049759
OMIM: 606384, Gene2Phenotype
NEDD4L is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status to green, enough evidence in literature from recent publication (PMID:27694961 April 2016), that gives evidence for 6 unrelated pro bands with the observed phenotype.
Created: 8 Feb 2017, 7:24 p.m.

Comment on list classification: Changed status to green, enough evidence in literature
Created: 8 Feb 2017, 7:20 p.m.

Comment on phenotypes: Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly.
Created: 8 Feb 2017, 7:18 p.m.

Comment on phenotypes: added disorder from OMIM
Created: 8 Feb 2017, 7:17 p.m.

Created: 8 Feb 2017, 7:17 p.m.

Panel version: 0.177

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cleft palate, toe syndactyly, periventricular nodular heterotopia

Publications

PMID:27694961

Created: 8 Dec 2016, 10:55 a.m.

Panel version: 0.35

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Victorian Clinical Genetics Services
Literature
Expert Review Green

Phenotypes

Cleft palate, toe syndactyly, periventricular nodular heterotopia
Periventricular nodular heterotopia 7 (includes clefting), 617201
Cleft palate

OMIM

606384

Clinvar variants

Variants in NEDD4L

Penetrance

Complete

Publications

27694961

Panels with this gene

History Filter Activity

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to NEDD4L. Panel: Clefting Phenotypes for gene NEDD4L were set to Cleft palate, toe syndactyly, periventricular nodular heterotopia, Periventricular nodular heterotopia 7 (includes clefting), 617201, Cleft palate

31 May 2017, Gel status: 4